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  3. ARPC5
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Fetal anomalies

Gene: ARPC5

Red List (low evidence)
ARPC5 (actin related protein 2/3 complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000162704
EnsemblGeneIds (GRCh37): ENSG00000162704
OMIM: 604227, Gene2Phenotype
ARPC5 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Both papers - patients presented postnatally in infancy with complex immunologic disorder. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation. One was born at 41 weeks with IUGR. Suggest red or amber
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 113 with autoimmunity and autoinflammation

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Immunodeficiency 113 with autoimmunity and autoinflammation
OMIM
604227
Clinvar variants
Variants in ARPC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: ARPC5 was added gene: ARPC5 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC5 were set to 37349293; 37382373 Phenotypes for gene: ARPC5 were set to Immunodeficiency 113 with autoimmunity and autoinflammation